Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18672021_18672072del | CA2695231612 | RS1 | c.1_52del (p.Met1ProfsTer?) | |
X | g.18672031del | CA2579563873 | RS1 | c.38del (p.Leu13ProfsTer?) | |
X | g.18672031A= | CA2417997006 | RS1 | c.38T= (p.Leu13=) | |
X | g.18672031A>C | CA412379033 | RS1 | c.38T>G (p.Leu13Arg) | |
X | g.18672031A>G | CA226709 | RS1 | c.38T>C (p.Leu13Pro) | ClinVar dbSNP |
X | g.18672031A>T | CA412379043 | RS1 | c.38T>A (p.Leu13His) | |
X | g.18672032G>A | CA10360833 | RS1 | c.37C>T (p.Leu13Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18672032G>C | CA412379051 | RS1 | c.37C>G (p.Leu13Val) | ClinVar |
X | g.18672032G= | CA2417997008 | RS1 | c.37C= (p.Leu13=) | |
X | g.18672032G>T | CA412379054 | RS1 | c.37C>A (p.Leu13Ile) | dbSNP gnomAD v2 gnomAD v4 |
X | g.18672032_18672036delinsGAAGT | CA2417997007 | RS1 | c.33_37delinsACTTC (p.Leu11=) | |
X | g.18672033A= | CA2417997009 | RS1 | c.36T= (p.Leu12=) | |
X | g.18672033A>C | CA515479458 | RS1 | c.36T>G (p.Leu12=) | |
X | g.18672033A>G | CA515479460 | RS1 | c.36T>C (p.Leu12=) | |
X | g.18672033A>T | CA515479462 | RS1 | c.36T>A (p.Leu12=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18672035_18672038del | CA226699 | RS1 | c.33_36del (p.Leu11PhefsTer?) | ClinVar dbSNP |
X | g.18672034A= | CA2417997010 | RS1 | c.35T= (p.Leu12=) | |
X | g.18672034A>C | CA412379060 | RS1 | c.35T>G (p.Leu12Arg) | ClinVar |
X | g.18672034A>G | CA412379067 | RS1 | c.35T>C (p.Leu12Pro) | |
X | g.18672034A>T | CA226701 | RS1 | c.35T>A (p.Leu12His) | ClinVar dbSNP |
X | g.18672035G>A | CA412379069 | RS1 | c.34C>T (p.Leu12Phe) | |
X | g.18672035G>C | CA412379073 | RS1 | c.34C>G (p.Leu12Val) | |
X | g.18672035G>T | CA412379076 | RS1 | c.34C>A (p.Leu12Ile) | |
X | g.18672036T>A | CA412379081 | RS1 | c.33A>T (p.Leu11Phe) | |
X | g.18672036T>C | CA515479474 | RS1 | c.33A>G (p.Leu11=) | |
X | g.18672036T>G | CA412379085 | RS1 | c.33A>C (p.Leu11Phe) | |
X | g.18672037A>C | CA412379089 | RS1 | c.32T>G (p.Leu11Ter) | |
X | g.18672037A>G | CA412379097 | RS1 | c.32T>C (p.Leu11Ser) | |
X | g.18672037A>T | CA412379100 | RS1 | c.32T>A (p.Leu11Ter) | |
X | g.18672038A>C | CA412379102 | RS1 | c.31T>G (p.Leu11Val) | |
X | g.18672038A>G | CA515479480 | RS1 | c.31T>C (p.Leu11=) | |
X | g.18672038A>T | CA412379105 | RS1 | c.31T>A (p.Leu11Ile) | |
X | g.18672039T>A | CA412379109 | RS1 | c.30A>T (p.Leu10Phe) | |
X | g.18672039T>C | CA515479490 | RS1 | c.30A>G (p.Leu10=) | gnomAD v4 |
X | g.18672039T>G | CA412379113 | RS1 | c.30A>C (p.Leu10Phe) | |
X | g.18672040A= | CA2417997011 | RS1 | c.29T= (p.Leu10=) | |
X | g.18672040A>C | CA412379119 | RS1 | c.29T>G (p.Leu10Ter) | |
X | g.18672040A>G | CA412379115 | RS1 | c.29T>C (p.Leu10Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18672040A>T | CA412379116 | RS1 | c.29T>A (p.Leu10Ter) | |
X | g.18672041A>C | CA412379122 | RS1 | c.28T>G (p.Leu10Val) | |
X | g.18672041A>G | CA515479499 | RS1 | c.28T>C (p.Leu10=) | |
X | g.18672041A>T | CA412379124 | RS1 | c.28T>A (p.Leu10Ile) | |
X | g.18672042C>A | CA412379125 | RS1 | c.27G>T (p.Leu9Phe) | gnomAD v4 |
X | g.18672042C>G | CA412379127 | RS1 | c.27G>C (p.Leu9Phe) | |
X | g.18672042C>T | CA515479504 | RS1 | c.27G>A (p.Leu9=) | |
X | g.18672043A= | CA2417997012 | RS1 | c.26T= (p.Leu9=) | |
X | g.18672043A>C | CA412379129 | RS1 | c.26T>G (p.Leu9Trp) | |
X | g.18672043A>G | CA412379132 | RS1 | c.26T>C (p.Leu9Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.18672043A>T | CA412379134 | RS1 | c.26T>A (p.Leu9Ter) | |
X | g.18672047dup | CA2499226545 | RS1 | c.26dup (p.Leu9PhefsTer9) | ClinVar dbSNP |